Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 479A>T; Glu160Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: E160V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

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Exploiting ion channel structure to assess rare variant pathogenicity.

Heart Rhythm

Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM

Publication Date: 2018-06

Variant appearance in text: KCNQ1: Glu160Val

PubMed Link: 29330128

Variant Present in the following documents:

• Main text

View BVdb publication page